NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
NM_000443.4(ABCB4):c.2784-12T>C
|
rs201498350
|
0.00019
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00009
|
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)
|
rs372685632
|
0.00006
|
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu)
|
rs143456575
|
0.00004
|
NM_000443.4(ABCB4):c.1778C>T (p.Thr593Met)
|
rs571555115
|
0.00003
|
NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser)
|
rs1037196284
|
0.00003
|
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter)
|
rs121918440
|
0.00002
|
NM_000443.4(ABCB4):c.1144G>T (p.Glu382Ter)
|
rs1554407511
|
0.00001
|
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln)
|
rs760153272
|
0.00001
|
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu)
|
rs141677867
|
0.00001
|
NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met)
|
rs754565782
|
0.00001
|
NM_000443.4(ABCB4):c.3486+1G>A
|
rs764513998
|
0.00001
|
NM_000443.4(ABCB4):c.3838T>C (p.Ter1280Arg)
|
rs754770911
|
0.00001
|
NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys)
|
rs757693457
|
0.00001
|
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)
|
rs377160065
|
0.00001
|
NM_000443.4(ABCB4):c.1119+1G>T
|
rs1584750660
|
|
NM_000443.4(ABCB4):c.1119+5G>A
|
rs1584750653
|
|
NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala)
|
rs863225298
|
|
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg)
|
rs1584747270
|
|
NM_000443.4(ABCB4):c.1357-2A>C
|
rs1584742063
|
|
NM_000443.4(ABCB4):c.1378A>T (p.Ile460Phe)
|
rs1562976422
|
|
NM_000443.4(ABCB4):c.1429C>T (p.Gln477Ter)
|
|
|
NM_000443.4(ABCB4):c.1449CAC[1] (p.Thr485del)
|
|
|
NM_000443.4(ABCB4):c.153G>A (p.Trp51Ter)
|
|
|
NM_000443.4(ABCB4):c.1571C>A (p.Thr524Asn)
|
|
|
NM_000443.4(ABCB4):c.1634G>A (p.Arg545His)
|
|
|
NM_000443.4(ABCB4):c.1906C>T (p.Gln636Ter)
|
|
|
NM_000443.4(ABCB4):c.2318G>T (p.Gly773Val)
|
rs1554401811
|
|
NM_000443.4(ABCB4):c.2380G>C (p.Ala794Pro)
|
|
|
NM_000443.4(ABCB4):c.2556C>A (p.Tyr852Ter)
|
rs533310204
|
|
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys)
|
rs1808782267
|
|
NM_000443.4(ABCB4):c.2861G>A (p.Gly954Asp)
|
|
|
NM_000443.4(ABCB4):c.2882_2883del (p.Tyr961fs)
|
rs1584684209
|
|
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)
|
rs752916287
|
|
NM_000443.4(ABCB4):c.2932T>C (p.Ser978Pro)
|
rs1051861187
|
|
NM_000443.4(ABCB4):c.3081+1G>T
|
|
|
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)
|
rs759202962
|
|
NM_000443.4(ABCB4):c.3220G>A (p.Gly1074Arg)
|
|
|
NM_000443.4(ABCB4):c.3224A>T (p.Lys1075Met)
|
rs1187517509
|
|
NM_000443.4(ABCB4):c.3434dup (p.Ser1146fs)
|
rs1584671714
|
|
NM_000443.4(ABCB4):c.3535C>T (p.Gln1179Ter)
|
rs1584665400
|
|
NM_000443.4(ABCB4):c.3838T>A (p.Ter1280Arg)
|
|
|
NM_000443.4(ABCB4):c.652del (p.Leu218_Val219insTer)
|
rs1584763429
|
|
NM_000443.4(ABCB4):c.762del (p.Val255fs)
|
|
|
NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg)
|
rs551234479
|
|
NM_000443.4(ABCB4):c.834-1G>A
|
rs752563752
|
|
NM_000443.4(ABCB4):c.893del (p.Asn298fs)
|
rs1584754766
|
|
NM_000443.4(ABCB4):c.905G>A (p.Gly302Asp)
|
rs1584754706
|
|
NM_000443.4(ABCB4):c.944C>A (p.Ala315Asp)
|
|
|
NM_018849.2(ABCB4):c.[431G>A;1210C>G]
|
|
|